RDEB Skin Metagenome

Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin disease characterized by epidermal fragility leading to chronic wounds. RDEB is complicated by other pathologies and ultimately leads to the development of highly aggressive squamous cell carcinoma. One of the defining features of RDEB wounds is that when they do heal, they do so with evident scarring. Because both scar formation and wound induced cancer havepreviously been linked to microbial infection in murine studies and because recent data have identified deficiencies in antibacterial immunity in RDEB patients, we sought to profile the microbiome of RDEB skin and wounds using shotgun whole-metagenome sequencing.